Allele Registry

Canonical Allele Identifier: PA2829947854

Gene: HHATL HGNC NCBI

ClinVar RCV:

RCV004397011

ClinVar Variation:

3105691

HGVS (amino-acid)	Matching Registered Transcripts
NP_065758.3:p.Phe217Leu	CA2337463 NM_020707.4:c.651C>A CA352255569 NM_020707.4:c.651C>G CA352255591 NM_020707.4:c.649T>C